How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications

J Ultrasound Med. 2018 Jul;37(7):1807-1820. doi: 10.1002/jum.14522. Epub 2018 Jan 27.

Abstract

The estimated prevalence of fetal caudal dysgenesis is 1 per 100,000 births. The functional prognosis of sacral agenesis is dominated by the large spectrum of associated caudal malformations. Except for cases associated with hydrocephalus secondary to open spinal dysraphism or chromosomal anomalies, association with mental deficiency is rare. We propose a systematic prenatal approach to cases of fetal sacral agenesis based on 9 etiologic items: clinical context, type of sacral dysgenesis, associated spinal cord malformations, mobility of lower limbs, investigation of the presacral region, analysis of the gastrointestinal tract, analysis of the genitourinary tract, associated vertebral defects, and cytogenetic analysis.

Keywords: Currarino syndrome; obstetrics (detailed fetal anatomy); obstetrics (second trimester); sacral agenesis; spinal dysraphism; spinal lipoma.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Female
  • Humans
  • Meningocele / diagnostic imaging*
  • Pregnancy
  • Sacrococcygeal Region / abnormalities*
  • Sacrococcygeal Region / diagnostic imaging
  • Sacrococcygeal Region / embryology
  • Ultrasonography, Prenatal / methods*

Supplementary concepts

  • Sacral defect and anterior sacral meningocele